扩展的表型和病原体的 Geleophysic 发育不良 3 由 de novo LTBP3 突变导致: 一个案例报告

Jie Liang1,2, Yu Han1,2, Huimin Tao1,2

  • 1Xuzhou Clinical College of Xuzhou Medical University, Xuzhou Central Hospital, Xuzhou, China.

Medicine
|December 20, 2024
PubMed
概括

潜伏转化生长因子-β-结合蛋白3 (LTBP3) 基因的新突变被确定为 Geleophysic Dysplasia 3 的原因. 这种遗传变化增强了转变生长因子-β信号传递,导致了这种疾病.

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